{"id":1357,"date":"2019-11-05T14:27:05","date_gmt":"2019-11-05T14:27:05","guid":{"rendered":"https:\/\/blogs.bmj.com\/jmg\/?p=1357"},"modified":"2026-02-24T00:24:02","modified_gmt":"2026-02-24T00:24:02","slug":"intronic-smchd1-variants-in-fshd-testing-the-potential-for-crispr-cas9-genome-editing","status":"publish","type":"post","link":"https:\/\/blogs.bmj.com\/jmg\/2019\/11\/05\/intronic-smchd1-variants-in-fshd-testing-the-potential-for-crispr-cas9-genome-editing\/","title":{"rendered":"Intronic SMCHD1 variants in FSHD: testing the potential for CRISPR-Cas9 genome editing (Contributed by Remko Goossens)"},"content":{"rendered":"<p>Facioscapulohumeral muscular dystrophy (FSHD) type 2 is a hereditary muscle disease which can be caused by mutations in the <em>SMCHD1<\/em> gene. While most <em>SMCHD1<\/em> mutations are found in the DNA coding for the protein (exon), we here report FSHD-causing mutations in non-coding regions of the <em>SMCHD1<\/em> gene (introns). This shows that these regions should be checked in FSHD diagnostics. Furthermore, we used CRISPR-Cas9 genome editing to remove an intronic <em>SMCHD1 <\/em>mutation from the genomic DNA in patient muscle cells. This restored levels of SMCHD1 protein, leading to reduced expression of the toxic FSHD causing <em>DUX4<\/em> transcript. (<a href=\"https:\/\/jmg.bmj.com\/content\/early\/2019\/10\/31\/jmedgenet-2019-106402\">https:\/\/jmg.bmj.com\/content\/early\/2019\/10\/31\/jmedgenet-2019-106402<\/a> )<!--TrendMD v2.4.8--><\/p>\n","protected":false},"excerpt":{"rendered":"<p>Facioscapulohumeral muscular dystrophy (FSHD) type 2 is a hereditary muscle disease which can be caused by mutations in the SMCHD1 gene. While most SMCHD1 mutations are found in the DNA coding for the protein (exon), we here report FSHD-causing mutations in non-coding regions of the SMCHD1 gene (introns). This shows that these regions should be [&#8230;]<\/p>\n<p><a class=\"btn btn-secondary understrap-read-more-link\" href=\"https:\/\/blogs.bmj.com\/jmg\/2019\/11\/05\/intronic-smchd1-variants-in-fshd-testing-the-potential-for-crispr-cas9-genome-editing\/\">Read More&#8230;<\/a><\/p>\n","protected":false},"author":123,"featured_media":0,"comment_status":"open","ping_status":"closed","sticky":false,"template":"","format":"standard","meta":{"footnotes":""},"categories":[1],"tags":[],"class_list":["post-1357","post","type-post","status-publish","format-standard","hentry","category-uncategorized"],"yoast_head":"<!-- This site is optimized with the Yoast SEO plugin v27.5 - https:\/\/yoast.com\/product\/yoast-seo-wordpress\/ -->\n<title>Intronic SMCHD1 variants in FSHD: testing the potential for CRISPR-Cas9 genome editing (Contributed by Remko Goossens) - JMG Contact blog<\/title>\n<meta name=\"robots\" content=\"index, follow, max-snippet:-1, max-image-preview:large, max-video-preview:-1\" \/>\n<link rel=\"canonical\" href=\"https:\/\/blogs.bmj.com\/jmg\/2019\/11\/05\/intronic-smchd1-variants-in-fshd-testing-the-potential-for-crispr-cas9-genome-editing\/\" \/>\n<meta property=\"og:locale\" content=\"en_US\" \/>\n<meta property=\"og:type\" content=\"article\" \/>\n<meta property=\"og:title\" content=\"Intronic SMCHD1 variants in FSHD: testing the potential for CRISPR-Cas9 genome editing (Contributed by Remko Goossens) - JMG Contact blog\" \/>\n<meta property=\"og:description\" content=\"Facioscapulohumeral muscular dystrophy (FSHD) type 2 is a hereditary muscle disease which can be caused by mutations in the SMCHD1 gene. While most SMCHD1 mutations are found in the DNA coding for the protein (exon), we here report FSHD-causing mutations in non-coding regions of the SMCHD1 gene (introns). 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His research applies human genetics and multi-omics to complex and pediatric diseases, including GWAS, polygenic risk scores (PRS), single-cell transcriptomics, and integrative genomics to support precision medicine and clinical translation.\",\"sameAs\":[\"https:\\\/\\\/x.com\\\/HuiQiQu\"],\"url\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/author\\\/hqiqu\\\/\"}]}<\/script>\n<!-- \/ Yoast SEO plugin. -->","yoast_head_json":{"title":"Intronic SMCHD1 variants in FSHD: testing the potential for CRISPR-Cas9 genome editing (Contributed by Remko Goossens) - JMG Contact blog","robots":{"index":"index","follow":"follow","max-snippet":"max-snippet:-1","max-image-preview":"max-image-preview:large","max-video-preview":"max-video-preview:-1"},"canonical":"https:\/\/blogs.bmj.com\/jmg\/2019\/11\/05\/intronic-smchd1-variants-in-fshd-testing-the-potential-for-crispr-cas9-genome-editing\/","og_locale":"en_US","og_type":"article","og_title":"Intronic SMCHD1 variants in FSHD: testing the potential for CRISPR-Cas9 genome editing (Contributed by Remko Goossens) - JMG Contact blog","og_description":"Facioscapulohumeral muscular dystrophy (FSHD) type 2 is a hereditary muscle disease which can be caused by mutations in the SMCHD1 gene. 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